Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments.
D000483:Alleles; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005787:Gene Frequency; D005838:Genotype; D006319:Hearing Loss, Sensorineural / Q000150:complications / Q000235:genetics* / Q000473:pathology; D006801:Humans; D020125:Mutation, Missense; D010641:Phenotype; D018807:Polymorphism, Single-Stranded Conformational; D012174:Retinitis Pigmentosa / Q000150:complications / Q000235:genetics* / Q000473:pathology; D017384:Sequence Deletion; D013030:Spain
D016326:Extracellular Matrix Proteins; C112735:USH2A protein, human; D004247:DNA